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Prenatal Diagnosis pp 221–231Cite as

Prenatal Diagnosis of Cystic Fibrosis

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Part of the book series: Methods in Molecular Biology ((MIMB,volume 1885))

Abstract

Cystic fibrosis (CF) is an inherited disease characterized by the accumulation of thick, sticky mucus which damages epithelia in organs such as the lungs, pancreas, liver, intestines, and other parts of the body. The most common symptoms are sinopulmonary disease and chronic gastrointestinal tract problems resulting from decreased mucociliary clearance and inflammation. CF is the most common life-limiting autosomal recessive disorder in people of northern European ancestry and it affects other populations with different prevalence. CF can be diagnosed by many methods including testing for blood immunoreactive trypsin, sweat chloride, transepithelial nasal potential difference, and molecular genetic testing.

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Authors and Affiliations

  1. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Anastasia M. Fedick, Lisa Edelmann & Ruth Kornreich

  2. Mount Sinai Genomics, Inc., DBA Sema4 Genomics, New York, NY, USA

    Anastasia M. Fedick, Lisa Edelmann & Ruth Kornreich

  3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Jinglan Zhang

Authors
  1. Anastasia M. Fedick
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  2. Jinglan Zhang
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  3. Lisa Edelmann
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  4. Ruth Kornreich
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Corresponding author

Correspondence to Ruth Kornreich .

Editor information

Editors and Affiliations

  1. Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA

    Brynn Levy

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Fedick, A.M., Zhang, J., Edelmann, L., Kornreich, R. (2019). Prenatal Diagnosis of Cystic Fibrosis. In: Levy, B. (eds) Prenatal Diagnosis. Methods in Molecular Biology, vol 1885. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-8889-1_15

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  • DOI: https://doi.org/10.1007/978-1-4939-8889-1_15

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-8887-7

  • Online ISBN: 978-1-4939-8889-1

  • eBook Packages: Springer Protocols

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